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Review
. 2012 Jun;19(2):67-74.
doi: 10.1016/j.spen.2012.04.001.

Neurodegeneration with brain iron accumulation: a diagnostic algorithm

Michael C Kruer  1 , Nathalie Boddaert
Affiliations
Review

Neurodegeneration with brain iron accumulation: a diagnostic algorithm

Michael C Kruer et al. Semin Pediatr Neurol. 2012 Jun.

Abstract

The diagnosis of neurodegeneration with brain iron accumulation (NBIA) can be challenging, particularly given recent advances in NBIA genetics and clinical nosology. Although atypical cases continue to challenge physicians, by considering clinical features along with relevant neuroimaging findings, the diagnosis of NBIA can be made confidently. In addition, the identification of genetically distinct forms of NBIA allows clinicians to better provide prognostic and family counseling services to families and may have relevance in the near future as clinical trials become available. We describe a heuristic approach to NBIA diagnosis, identify important differential considerations, and demonstrate important neuroimaging features to aid in the diagnosis.

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Figures

Figure 1
Figure 1
Clinical and radiographic approach to NBIA
Figure 2
Figure 2. Contrast between disorders of iron deposition and disorders of energy production
Idiopathic NBIA (A): iron deposition disorders feature a characteristic hypointensity of the basal ganglia, most typically the globus pallidus. Mitochondrial encephalopathy with complex I deficiency (B&C): mitochondrial disorders, in contrast, often feature basal ganglia T2 hyperintensity.
Figure 3
Figure 3. MRI appearance of metal deposition disorders
(A&B) Wilson disease; (C) inherited hypermanganism caused by SLC30A10 mutation; (D) Fahr disease. Images reprinted by permission
Figure 4
Figure 4
Neuroferritinopathy
Figure 5
Figure 5
Aceruloplasminemia
Figure 6
Figure 6. Eye of the tiger in PKAN and mimics
(A) Eye of the tiger in PKAN; (B) Eye of the tiger-like appearance in neuroferritinopathy; (C) Neurofibromatosis; note lack of surrounding hypointensity that would indicate iron deposition.
Figure 7
Figure 7
PKAN
Figure 8
Figure 8
PLAN
Figure 9
Figure 9
MPAN
Figure 10
Figure 10
FAHN
Figure 11
Figure 11
Kufor Rakeb
Figure 12
Figure 12
SENDA
See this image and copyright information in PMC

References

    1. Autti T, Joensuu R, Aberg L. Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology. 2007 Jul;49(7):571–8. - PubMed
    1. Bartzokis G, Cummings J, Perlman S, Hance DB, Mintz J. Increased basal ganglia iron levels in Huntington disease. Arch Neurol. 1999 May;56(5):569–74. - PubMed
    1. Chinnery PF, Curtis AR, Fey C, Coulthard A, Crompton D, Curtis A, Lombes A, Burn J. Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet. 2003;40:e69. - PMC - PubMed
    1. Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain. 2007 Jan;130(Pt 1):110–9. - PubMed
    1. Engel LA, Jing Z, O'Brien DE, Sun M, Kotzbauer PT. Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. - PMC - PubMed

Publication types

Supplementary concepts